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Plos Genetics|April 30, 2019
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunctionDov Tiosano, Hagit N Baris, Anlu Chen, et al.
American Journal of Human Genetics|May 22, 2012
Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunityGabriela Lopez-Herrera, Giacomo Tampella, Qiang Pan-Hammarström, et al.
Human Molecular Genetics|December 4, 2020
Heterozygous loss of WBP11 function causes multiple congenital defects in humans and miceElla M M A Martin, Annabelle Enriquez, Duncan B Sparrow, et al.
JAMA Network Open|February 22, 2024
National Rapid Genome Sequencing in Neonatal Intensive CareDaphna Marom, Adi Mory, Sivan Reytan-Miron, et al.
Nature Communications|October 5, 2018
Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorderMarisa W Friederich, Sharita Timal, Christopher A Powell, et al.
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